{"id":"W2156728666","doi":"10.1101/gr.5630906","title":"Accurate and reliable high-throughput detection of copy number variation in the human genome","year":2006,"lang":"en","type":"article","venue":"Genome Research","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":150,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Wellcome Trust","keywords":"Biology; Copy-number variation; Human genome; Replicate; Genetics; Computational biology; Copy number analysis; Genome; Robustness (evolution); Gene; Statistics","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009511089,0.00007822777,0.0000940402,0.00006670623,0.0001986831,0.00004607332,0.0001664532,0.0000980093,0.00004627453],"category_scores_gemma":[0.00001901046,0.00006488815,0.00002497674,0.0002114223,0.00009175902,0.000008191048,0.00009953556,0.000129918,0.00001413514],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003299612,"about_ca_system_score_gemma":0.00004863929,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002519105,"about_ca_topic_score_gemma":0.000326437,"domain_scores_codex":[0.9989356,0.0001723196,0.0002218836,0.0002209413,0.0001945747,0.0002546363],"domain_scores_gemma":[0.9995013,0.00002297601,0.00005434036,0.0002646577,0.0001365388,0.00002012159],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00002341375,0.00005931462,0.003262583,0.00003082667,0.00001230823,0.00000159747,0.0002909392,0.0003646561,0.9930408,0.002827912,0.00004597531,0.00003970199],"study_design_scores_gemma":[0.000899953,0.0003689131,0.8898505,0.000008705264,0.00001245448,0.00003094409,0.0006873972,0.00004349539,0.08061477,0.007544175,0.01972126,0.0002174527],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963948,0.0003081403,0.0005400026,0.0001144105,0.00002829614,0.000223603,0.00001771816,0.000003419726,0.002369654],"genre_scores_gemma":[0.9983587,0.0001426216,0.0002016838,0.00001552679,0.0001953625,0.00004445079,0.00009815332,0.00001069957,0.0009327878],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.912426,"threshold_uncertainty_score":0.380815,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02230028128535735,"score_gpt":0.3016930487262093,"score_spread":0.279392767440852,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}